Findings from University of Virginia Health System Yields New Data on Epileptic Encephalopathy (Parvalbumin Interneuron Impairment Causes Synaptic Transmission Deficits and Seizures In Scn8a Developmental and Epileptic Encephalopathy).

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Zdroj: Genomics & Genetics Weekly; 11/29/2024, p503-503, 1p
Abstrakt: Researchers at the University of Virginia Health System have discovered that impairments in parvalbumin interneurons can lead to synaptic transmission deficits and seizures in individuals with SCN8A developmental and epileptic encephalopathy (DEE). This severe epilepsy syndrome is caused by mutations in the SCN8A gene, affecting both excitatory and inhibitory neurons. The study found that the failure of parvalbumin interneurons, due to depolarization block and inhibitory synaptic impairment, results in unchecked excitation, leading to seizures and seizure-induced death. This research sheds light on the importance of understanding the role of inhibitory interneurons in epilepsy. [Extracted from the article]
Databáze: Complementary Index